Canonical Allele Identifier: CA399794356

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42337770A>T (hg19) ; chr17:g.44260402A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260402A>T , CM000679.2:g.44260402A>T	GRCh38
NC_000017.10:g.42337770A>T , CM000679.1:g.42337770A>T	GRCh37
NC_000017.9:g.39693296A>T	NCBI36
NG_007498.1:g.12733T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.485+2T>A MANE Select	ENSP00000262418.6:n.485+2T>A
ENST00000262418.10:c.485+2T>A	ENSP00000262418.6:n.485+2T>A
ENST00000399246.3:c.485+2T>A	ENSP00000382190.3:n.485+2T>A
ENST00000497360.5:n.624+2T>A
NM_000342.3:c.485+2T>A	NP_000333.1:n.485+2T>A
XM_005257593.3:c.290+2T>A	XP_005257650.1:n.290+2T>A
XM_011525129.1:c.485+2T>A	XP_011523431.1:n.485+2T>A
XM_011525130.1:c.485+2T>A	XP_011523432.1:n.485+2T>A
XM_011525131.1:c.485+2T>A	XP_011523433.1:n.485+2T>A
XM_005257593.5:c.290+2T>A	XP_005257650.1:n.290+2T>A
XM_011525129.2:c.485+2T>A	XP_011523431.1:n.485+2T>A
NM_000342.4:c.485+2T>A MANE Select	NP_000333.1:n.485+2T>A